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Gene: CACNA1E & Disease: DEE69, 219 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
265066	CACNA1E	c.1054G>A	p.Gly352Arg (p.G352R)	NM_001205293.3 M	SNV	P	3 +	4
521483	CACNA1E	c.2104G>A	p.Ala702Thr (p.A702T)	NM_001205293.3 M	SNV	P	4 +	4
265066	CACNA1E	c.1054G>A	p.Gly352Arg (p.G352R)	NM_000721.4	SNV	P	3 +	4
265066	CACNA1E	c.1054G>A	p.Gly352Arg (p.G352R)	NM_001205294.2	SNV	P	3 +	4
521483	CACNA1E	c.2104G>A	p.Ala702Thr (p.A702T)	NM_000721.4	SNV	P	4 +	4
521483	CACNA1E	c.2104G>A	p.Ala702Thr (p.A702T)	NM_001205294.2	SNV	P	4 +	4
1430199	CACNA1E	c.3214G>A	p.Val1072Ile (p.V1072I)	NM_001205293.3 M	SNV	VUS	1 +	2
1064617	CACNA1E	c.4608C>T	p.Asn1536= (p.N1536=)	NM_001205293.3 M	SNV	VUS	1 +	2
1430199	CACNA1E	c.3214G>A	p.Val1072Ile (p.V1072I)	NM_000721.4	SNV	VUS	1 +	2
1430199	CACNA1E	c.3157G>A	p.Val1053Ile (p.V1053I)	NM_001205294.2	SNV	VUS	1 +	2
1064617	CACNA1E	c.4608C>T	p.Asn1536= (p.N1536=)	NM_000721.4	SNV	VUS	1 +	2
1064617	CACNA1E	c.4551C>T	p.Asn1517= (p.N1517=)	NM_001205294.2	SNV	VUS	1 +	2
975357	CACNA1E	c.2774G>A	p.Arg925His (p.R925H)	NM_001205293.3 M	SNV	LB	1 +	1
1320140	CACNA1E	c.1042G>C	p.Gly348Arg (p.G348R)	NM_001205293.3 M	SNV	LP	3 +	1
1213766	CACNA1E	c.2314C>T	p.Arg772Trp (p.R772W)	NM_001205293.3 M	SNV	VUS	1 +	1
617451	CACNA1E	c.2101A>G	p.Ile701Val (p.I701V)	NM_001205293.3 M	SNV	P	3 +	1
1699232	CACNA1E	c.4165C>T	p.Arg1389Ter (p.R1389X)	NM_001205293.3 M	SNV	VUS	1 +	1
224995	CACNA1E	c.2093T>C	p.Phe698Ser (p.F698S)	NM_001205293.3 M	SNV	P	3 +	1
390468	CACNA1E	c.1807A>C	p.Ile603Leu (p.I603L)	NM_001205293.3 M	SNV	P	3 +	1
989253	CACNA1E	c.4004A>T	p.Asp1335Val (p.D1335V)	NM_001205293.3 M	SNV	LP	1 +	1

219 Results, 20 per Page

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